TY - JOUR
T1 - Active human retrotransposons
T2 - Variation and disease
AU - Hancks, Dustin C.
AU - Kazazian, Haig H.
N1 - Funding Information:
We would like to thank Jean Andorf, Todd Scheetz, Ed Stone, Dana Fuchs-Telem, Eli Sprecher, Veronica Bernard, Licinio Manco, and Leticia Ribeiro for providing information regarding disease-causing insertions. We apologize to colleagues whose work was not expanded or highlighted due to space constraints. Work in the Kazazian Lab is funded by grants from the National Institutes of Health awarded to HHK.
PY - 2012/6
Y1 - 2012/6
N2 - Mobile DNAs, also known as transposons or 'jumping genes', are widespread in nature and comprise an estimated 45% of the human genome. Transposons are divided into two general classes based on their transposition intermediate (DNA or RNA). Only one subclass, the non-LTR retrotransposons, which includes the Long INterspersed Element-1 (LINE-1 or L1), is currently active in humans as indicated by 96 disease-causing insertions. The autonomous LINE-1 is capable of retrotransposing not only a copy of its own RNA in cis but also other RNAs (Alu, SINE-VNTR-Alu (SVA), U6) in trans to new genomic locations through an element encoded reverse transcriptase. L1 can also retrotranspose cellular mRNAs, resulting in processed pseudogene formation. Here, we highlight recent reports that update our understanding of human L1 retrotransposition and their role in disease. Finally we discuss studies that provide insights into the past and current activity of these retrotransposons, and shed light on not just when, but where, retrotransposition occurs and its part in genetic variation.
AB - Mobile DNAs, also known as transposons or 'jumping genes', are widespread in nature and comprise an estimated 45% of the human genome. Transposons are divided into two general classes based on their transposition intermediate (DNA or RNA). Only one subclass, the non-LTR retrotransposons, which includes the Long INterspersed Element-1 (LINE-1 or L1), is currently active in humans as indicated by 96 disease-causing insertions. The autonomous LINE-1 is capable of retrotransposing not only a copy of its own RNA in cis but also other RNAs (Alu, SINE-VNTR-Alu (SVA), U6) in trans to new genomic locations through an element encoded reverse transcriptase. L1 can also retrotranspose cellular mRNAs, resulting in processed pseudogene formation. Here, we highlight recent reports that update our understanding of human L1 retrotransposition and their role in disease. Finally we discuss studies that provide insights into the past and current activity of these retrotransposons, and shed light on not just when, but where, retrotransposition occurs and its part in genetic variation.
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U2 - 10.1016/j.gde.2012.02.006
DO - 10.1016/j.gde.2012.02.006
M3 - Review article
C2 - 22406018
AN - SCOPUS:84862507347
SN - 0959-437X
VL - 22
SP - 191
EP - 203
JO - Current Opinion in Genetics and Development
JF - Current Opinion in Genetics and Development
IS - 3
ER -